RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms:
exact_synonym:
CGD due to deficiency of the alpha subunit of cytochrome b; CGD4; CYBA Deficiency; autosomal recessive chronic granulomatous disease 4; autosomal recessive cytochrome b-negative CGD; chronic granulomatous disease due to deficiency of CYBA; chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar Annotator: match by OMIM:233690 ClinVar Annotator: match by null